Tag Archives: Genetics

G – #AtoZChallenge on Mental Health

Welcome to the #AtoZChallenge on mental health, letter G. This was a pretty hard letter for me, so most of the words I chose are not specifically related to mental health.

Gender

There is an increasing interest in gender-specific medicine, ie. medical research and practice that takes into account how medical (including psychiatric) conditions affect women differently from men. For example, autism spectrum disorders and ADHD used to be thought of as typically male conditions whereas borderline personalitty disorder was thought to affect females primarily. It now turns out that many women have been misdiagnosed with for instance BPD when they really have an ASD and/or ADHD. The reverse is also true: eating disorders are stereotypically thought of as female disorders, so men with eating disordes often remain undiagnosed.

Men and women also differ in their treatment-seeking patterns. Women seek counseling more often, whereas men are overrepresented in psychiatric hospitals and are sectioned or taken into forensic treatment more often.

Genetics

When DSM-5, the current edition of the psychiatrist’s manual, was being prepared, initially they wanted to use a dimensional diagnosis with genetics on one axis. However, they finally decided too little is known about the gentics of mental illness yet. Mental illness is not a purely genetic thing and it isn’t purely caused by life events. For example, when I studied psychology in 2007, there was some recent research into the interplay between a particular gene called the lazy MAO A gene and one’s upbringing in causing antisocial behavior. MAO A is an enzyme that breaks down certian neurotransmitters in the brain. When people have the lazy MAO A gene, they produce too little of this enzyme. This is linked to antisocial behavior. However, even if a person had this lazy gene, upbringing played a role in the risk for developing conduct disorder in childhood and antisocial personality disorder in adulthood. The two factors together cause people to become antisocial.

Geriatrics

Geriatrics is the branch of medicine specializing in older people and diseases of the elderly. Geriatrists may work in mental health care, but more often on units for people with neurocognitive disorders (dementia). The city institution I used to reside in had several units for older people, some of whch specialized in neurocognitive disorsers where behavior was particularly dysregulated. On these units, geriatrics and psychiatry are combined.

GP

Everyone in the Netherlands (and other countries with socialized healthcare) is entitled to the care of a general practitioner (G). Most peope in long-term inpatient mental health treatment don’t have a GP where they used to live. I for one have yet to find a GP near the tiny village. Therefore, the hospital employs GPs. GPs in mental hospitals do not generally involve themselves with the patients’ mental health and psychiatrists do not generally take care of the patients’ physical health. In this sense, a GP in a mental hospital has a different role than in the community. In the community, GPs are the gatekeeper to all care whether it’s mental or physical, after all.

Vaccines and Autism: Stop Beating a Dead Horse #AtoZChallenge

Welcome to day 22 in the A to Z Challenge on autism. Today, I focus on a very controversial subjects: do vaccines cause autism?

The answer to this question could be very short: no. The Autism Science Foundation has compiled an exhaustive list of studies on the subject, which investigate pretty much every aspect of vaccines that the anti-vaccine community has blamed for autism, including whether vaccinated children are generally more likely to be autistic than non-vaccinated children. The anti-vaccine crowd have consistently demanded such a population-based study, but several were published and they still believe vaccines cause autism.

The problem is a little more complicated in one tiny aspect, and this is the fact that the general autism community believes that autism is purely genetic. This has not been proven, and the anti-vaccine community has a point to suggest environmental factors in general could be risk factors for autism.

What if avoidable environmental factors, such as vaccines, did cause autism in genetically vulnerable children? After all, we know that vaccines and other environmental factors carry risks. It is easy to say that no more vaccinated children are autistic than non-vaccinated children, for example, but what if a multitude of environmental factors, including vaccines, could contribute to autism? As a parent, after all, you’re not dealing with a population of vaccinated and unvaccinated children; you are dealing with your own child.

You have to weigh risks. With vaccines, however, the problem is you run the risk of losing herd immunity if you and a lot of parents are not vaccinating. Herd immunity is the condition in which a disease has been extinguished due to a large part of the population being immunized to it. This is tough, because you are not dealing with the entire population as I said; you are dealing with your child. It is not like, if you don’t vaccinate, they are guaranteed to die of the disease the vaccine protects against, but another child just might. In this sense, while I advocate parents’ right to make decisions about their children’s health, I urge parents to be responsible.

Another problem is that the vaccine controversy hinders research into other environmental and genetic factors that might cause autism. For example, many people using biomedical interventions for autism find that their child has (or is thought to have) a lot of things wrong with them, including for example food intolerances. What if the key to finding the cause of autism lay in fact with such other, often trivialized, biological factors? It is understandable that parents who are part of the pro-biomed community are discredited, because they keep insisting vaccines cause autism in spite of overwheming evidence to the contrary.

Research is not advanced if people advocating for it keep asking the same questions that have been answered a million times. If you truly want to prevent autism (which I for one don’t, but many parents do), support research into a variety of enviornmental and genetic risk factors and stop beating a dead horse.

Quirkiness: The Broader Autism Phenotype #AtoZChallenge

Welcome to another week and another day in the A to Z Challenge on autism. Today’s post is called “Quirkiness” because I couldn’t think of any other relevant word starting with the letter Q. I bet other people have trouble with this letter too. I will focus on the broader autism phenotype, which basically describes people who are quirky. This post is quite involved, so I hope I have explained things properly.

The broader autism phenotype (BAP) describes people who have similar but milder traits than those found in autism spectrum disorder people, and who are not impaired in their functioning by these traits. The broader autism phenotype is particulalry useful for research into the heritability of autism. It is likely that autism is largely a genetic disorder, and this idea is supported by research into the BAP. Non-autistic parents of autistic children more often than parents of neurotypical children exhibit the broader autism phenotype.

So what is the broader autism phenotype? It describes traits that are related to autism and are more common among family members of autistic people. According to Losh et al. (2008), this includes characteristics such as a socially reticent or aloof personality, untactful behavior and fewer high-quality (ie. emotionally reciprocial) friendships. It also includes a rigid personality, little interest in novelty, difficulty adjusting to change and a perfectionistic or overly conscientious personality. Family members of autistic people also exhibit more fear or neuroticism and are at a higher risk of developing anxiety disorders.

Non-autistic parents’ autistic traits are, for research purposes, commonly measured by the broad autism phenotype questionnaire (BAPQ). The BAPQ focuses on the traits and behaviors I mentioned above.

Only 10% to 20% of cases of autism can be explained by a known biological cause, such as a genetic mutation (Sasson et al, 2013). These are often sporadic mutations, meaning they occur in the autistic person only and not their parents.

With the broad autism phenotype, autism symptoms do carry over from one generation onto the next. A large number of autistic children in a study by Sasson et al. (2013) had one parent who displayed the broad autism phenotype. If both parents displayed the BAP, a child was also more likely to be autistic than not. The presence of the broader autism phenotype was also associated with the severity of autistic symptoms. In other words, if one or both parents had autistic quirks, an autistic child was more likely to be more severely affected. Maxwell et al. (2013) found the same: a higher score on the BAPQ in parents was related to more severe autistic symptoms (as measured by the Social Responsiveness Scale) in their children. The parents’ BAPQ score was not related to the child’s IQ, which is a common measure of functioning level in autistics.

References

Losh M, Childress D, Lam KSL and Piven J (2008), Defining Key Features of the Broad Autism Phenotype: A Comparison Across Parents of Multiple- and Single-Incidence Autism Families. Am J Med Genet B Neuropsychiatr Genet, 147B(4):424-433. DOI: 10.1002/ajmg.b.30612.


Maxwell CR, Parish-Morris J, Hsin O, Bush JC, and Schultz RT, The Broad Autism Phenotype Predicts Child Functioning in Autism Spectrum Disorders. J Neurodev Disord. 2013; 5(1): 25. DOI: 10.1186/1866-1955-5-25.


Sasson NJ, Lam KS, Parlier M, Daniels JL, Piven J (2013), Autism and the Broad Autism Phenotype: Familial Patterns and Intergenerational Transmission. J Neurodev Disord, 5(1):11. doi: 10.1186/1866-1955-5-11.

Six Myths About Autism

I haven’t written about autism in a long while. It is mostly because I have been busy writing other things, such as posts chronicling my eating disorder recovery journey and posts inspired by writing promts. I also don’t want to write too involved posts that are unreadable to a large majority of my readers. However, just today, I came across a really interesting post dismantling five myths about cerebral palsy. I am not a total laywoman on the subject of cerebral palsy, but even I could learn from thhis post. So I thought maybe I could do the same on autism. Here are some common myths, some of which even autistic people or parents of autistic children buy into. I did get rather caught up in details I think, but if some of my readers learn something from this, I’m content.

1. There is one single, known cause of autism. Most autistic people claim that autism is 100% genetic. Some people, mostly parents of autistic children, claim that autism is caused by vaccines, pesticides, or other environmental factors. These claims are often politically motivated. The autistics want a genetic cause because it means they are truly wired this way, while the people who claim vaccines or other environmental facotrs cause autism, want to argue that autism is a disease that can and should be cured. The reality is, the cause of autism is unknown. While the vaccine theory has been disproven, other environmental factor theories have not and twin studies show that autism isn’t 100% genetic. Other factors, such as premature birth and pregnancy complications, have been named too. Even if autism were 100% genetic, there are likely more than a few genes that contribute.

2. Autism is a physical illness. Related to the vaccine theory mentioned above, some people believe that autism is caused by “leaky gut”, an inability of the bowel to digest certain proteins that will leak through the bowel wall into the bloodstream and also through the blood-brain barrier. Until very recently, I thought that “leaky gut” is a fake condition propagated by alternative medicine. It isn’t. In fact, there are several conditions speculated to be due to this problem, for which the genes have been located on chromosome 16. The most logical example is Celiac disease, but other bowel conditions (eg. Crohn’s Disease) and in fact neurological conditions (eg. multiple sclerosis) may be partly caused by this problem. Therefore, it is not entirely impossible that autism in some cases may be partly due to “leaky gut”, but this is still just a theory. Research in this area (eg. whether gastointestinal problems are more common in autistics) shows mixed results. If a child or adult with autism has gastrointestinal symptoms, they may feel better after treatment for these symptoms. That doesn’t mean that autism is physical in nature. It could be related to “leaky gut”, but that doesnt’make the condition itself a physical health problem. By the way, there are no treatments so far that solve “leaky gut”. Avoiding gluten and dairy may help, but its effects have not been proven in those who do not have diagnosable Celiac disease.

3. Autism is a mental illness. This is somewhat of a political statement, and so is the stateement that it definitely is not a mental illness. I don’t particularly care if someone says autism is a mental illness, but most people disagree. There is no strict definition of a mental illness (contrasting it with a developmental disability) in the psychiatric manual (DSM-5). There is a definition of a mental disorder in DSM-5, but this includes autism too. There is also a definition of a neurodevelopmental disorder, the category under which autism is classified. This category includes conditions like ADHD, intellectual disability, Tourette Syndrome, and autism of course. This is a similar category to the categories of schizophrenia and other psychotic disorders, obsessive-compulsive spectrum disorders, or any other category within DSM-5. Formal categorization aside, however, most people say that autism is not a mental illness because it is developmental in nature. It is a common myth however, often held by autistics who have had negative experiences in psychiatry, that absolutely no treatment originally designed for other mental disorders, can be used for neurodevelopmental disorders such as autism.

4. All autistic people have an intellectual disability. Autistics span the full range of intellectual abilities. The most pessimistic (if an intellectual disability is seen as a negative outcome) studies show that around 40% of people with autism spectrum disorders have an intellectual disablity. However, IQ is hard to measure in people with severe social and communicative deficits, so those with more severe autism are likely to score lower on a standardized IQ test (such as the Wechsler scales) than their actual ability. Others, particularly those with good verbal skills, may score higher than their real-world functioning would suggest.

5. Autism affects children only. The fact that it is developmental in nature, doesn’t mean that autism doesn’t affect adults. Autistic children gorw into autistic adutls just like for example children with Down Syndrome grow into adults with Down Syndrome. Children and adults with autism may improve in daily functioning, but they won’t become non-autistic.

6. Autism can be cured. Autistics, like people with other developmental disabilities, can learn adaptive skills to function as well as possible in daily life. That again doesn’t make them non-autistic. The most evidence-based intervetnion is applied behavior analysis, an intensive behavioral training. Even this approach can merely teach autistics to act like a non-autistic person in the situations they’ve been trained in. Some people cliam they have “cured” their autistic children with biomedical interventions. I won’t call these people liars, but there is no scientific evidence to support their claims.

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